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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Acquired partial lipodystrophy
Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy
Multiple symmetric lipomatosis
Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis
North Carolina macular dystrophy
CAPE dystrophy · CAPED
Progressive cone dystrophy
Cone dystrophy
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy
Progressive muscular dystrophy